Cherry Red Spot at the Macula
The appearance of a "cherry red spot at the macula", caused by the contrast of a red macula against retinal pallor, occurs in a number of metabolic storage disorders, including:
Sialidosis (type I = cherry red spot-myoclonus syndrome) Gangliosidoses (e.g., Tay-Sachs disease: Tay’s sign) Metachromatic leukodystrophy
Niemann-Pick disease (especially type A)
Storage of sphingolipids or other substances in ganglion cells in the perimacular region gives rise to the appearance.
Kivlin JD, Sanborn GE, Myers GG. The cherry-red spot in Tay-Sachs and other storage diseases. Annals of Neurology 1985; 17: 356-360